Variant report

Variant	rs4572487
Chromosome Location	chr18:7824340-7824341
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16952564	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16952566	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4356548	0.97[ASN][1000 genomes]
rs59483663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7244492	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs727952	1.00[CHB][hapmap];0.88[JPT][hapmap];0.97[ASN][1000 genomes]
rs9948485	1.00[JPT][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv458016	chr18:7488133-7934001	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv576399	chr18:7488133-7934001	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2762810	chr18:7492090-7924728	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1062911	chr18:7561991-8088274	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv543637	chr18:7561991-8088274	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1064345	chr18:7562051-8088274	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv543638	chr18:7562051-8088274	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv576425	chr18:7747873-7859757	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1062454	chr18:7784432-7838015	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7815400-7843800	Weak transcription	A549	lung
2	chr18:7815600-7824800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr18:7815600-7826400	Weak transcription	HepG2	liver
4	chr18:7818200-7839400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr18:7820000-7826200	Enhancers	Right Ventricle	heart
6	chr18:7820600-7825000	Enhancers	Psoas Muscle	Psoas
7	chr18:7821600-7825200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr18:7821800-7836200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr18:7822400-7824400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr18:7822400-7825000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr18:7822400-7825400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr18:7822400-7826200	Enhancers	Left Ventricle	heart
13	chr18:7822600-7825000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr18:7822600-7825600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr18:7822600-7826200	Enhancers	Fetal Muscle Leg	muscle
16	chr18:7822600-7826200	Enhancers	Right Atrium	heart
17	chr18:7822800-7824400	Enhancers	Primary T cells fromperipheralblood	blood
18	chr18:7822800-7825000	Enhancers	Lung	lung
19	chr18:7822800-7825800	Enhancers	Fetal Muscle Trunk	muscle
20	chr18:7823000-7825000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr18:7823000-7825200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr18:7823000-7825200	Enhancers	Thymus	Thymus
23	chr18:7823000-7825400	Enhancers	Fetal Thymus	thymus
24	chr18:7823000-7825800	Enhancers	Adipose Nuclei	Adipose
25	chr18:7823200-7825000	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr18:7823200-7825600	Weak transcription	Aorta	Aorta
27	chr18:7823200-7825800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr18:7823200-7825800	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr18:7823400-7824600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr18:7823400-7824600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr18:7823400-7824600	Weak transcription	Brain Anterior Caudate	brain
32	chr18:7823400-7824600	Weak transcription	Colon Smooth Muscle	Colon
33	chr18:7823400-7824600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr18:7823400-7825000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr18:7823400-7825000	Weak transcription	HSMMtube	muscle
36	chr18:7823400-7826600	Weak transcription	Fetal Stomach	stomach
37	chr18:7823400-7832200	Weak transcription	Fetal Lung	lung
38	chr18:7823600-7824800	Weak transcription	Spleen	Spleen
39	chr18:7823600-7830600	Weak transcription	Fetal Heart	heart
40	chr18:7824000-7824400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr18:7824000-7824400	Enhancers	Pancreas	Pancrea
42	chr18:7824200-7824400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr18:7824200-7824400	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr18:7824200-7824400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

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